NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 30, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV005400410.1

Allele description [Variation Report for NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)]

NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)

Gene:

GDF6:growth differentiation factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro)

HGVS:

NC_000008.11:g.96145065A>G
NG_008981.1:g.20728T>C
NM_001001557.3:c.866T>C
NM_001001557.4:c.866T>CMANE SELECT
NP_001001557.1:p.Leu289Pro
NC_000008.10:g.97157293A>G
NM_001001557.2:c.866T>C
NM_001001557.4:c.866T>C
Q6KF10:p.Leu289Pro

Protein change:

L289P; LEU289PRO

Links:

UniProtKB: Q6KF10#VAR_046904; OMIM: 601147.0002; dbSNP: rs63751220

Molecular consequence:

NM_001001557.4:c.866T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Klippel-Feil syndrome 1, autosomal dominant (KFS1)
Synonyms:: CERVICAL VERTEBRAL FUSION, AUTOSOMAL DOMINANT
Identifiers:: MONDO: MONDO:0007306; MedGen: C1861689; Orphanet: 2345; OMIM: 118100

Name:: Isolated microphthalmia 4
Identifiers:: MONDO: MONDO:0013130; MedGen: C2751307; Orphanet: 2542; OMIM: 613094

Name:: Microphthalmia, isolated, with coloboma 6 (MCOPCB6)
Synonyms:: Microphthalmia with coloboma 6, digenic; Microphthalmia with coloboma 6; MICROPHTHALMIA/COLOBOMA 6
Identifiers:: MONDO: MONDO:0013376; MedGen: C3150968; Orphanet: 98938; OMIM: 613703

Name:: Leber congenital amaurosis 17 (LCA17)
Identifiers:: MONDO: MONDO:0014145; MedGen: C3715164; Orphanet: 65; OMIM: 615360

Name:: Multiple synostoses syndrome 4
Identifiers:: MONDO: MONDO:0054752; MedGen: C4693531; OMIM: 617898

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV006059243	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jul 30, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV006059243

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jul 30, 2021)

germline

research

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Department of Pathology and Laboratory Medicine, Sinai Health System, SCV006059243.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 1, 2026

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