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NM_000601.6(HGF):c.1810T>C (p.Cys604Arg) AND Autosomal recessive nonsyndromic hearing loss 39

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 7, 2022
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:
RCV002465061.3

Allele description [Variation Report for NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)]

NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)

Gene:
HGF:hepatocyte growth factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.11
Genomic location:
Preferred name:
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
HGVS:
  • NC_000007.14:g.81705701A>G
  • NG_016274.2:g.69436T>C
  • NM_000601.6:c.1810T>CMANE SELECT
  • NM_001010932.3:c.1795T>C
  • NP_000592.3:p.Cys604Arg
  • NP_001010932.1:p.Cys599Arg
  • NC_000007.13:g.81335017A>G
Protein change:
C599R
Links:
dbSNP: rs2115766118
NCBI 1000 Genomes Browser:
rs2115766118
Molecular consequence:
  • NM_000601.6:c.1810T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001010932.3:c.1795T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Autosomal recessive nonsyndromic hearing loss 39
Identifiers:
MONDO: MONDO:0012003; MedGen: C1842342; Orphanet: 90636; OMIM: 608265

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002759456Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Sep 7, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

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 Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology, SCV002759456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The c.1810T>C variation is not present in publicly available population databases like 1000 Genomes, EVS, ExAC and Indian Exome Database. The variant is also not present in our in-house exome database. The variant has neither been published in literature nor reported to clinical databases like ClinVar, Human Genome Mutation Database (HGMD) or OMIM, in any affected individuals. In-silico pathogenicity prediction programs like Polyphen-2, MutationTaster2, CADD, etc. predicted that this variant is likely deleterious, however these predictions were not confirmed by any published functional studies.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: May 16, 2025