NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) AND multiple conditions

Clinical significance:Uncertain significance (Last evaluated: Sep 27, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)]

NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)

SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
  • NC_000001.11:g.243308026C>G
  • NG_027811.1:g.57022C>G
  • NM_001350246.1:c.-126C>G
  • NM_001350247.1:c.-126C>G
  • NM_001350248.1:c.874C>G
  • NM_001350249.1:c.484C>G
  • NM_001350251.1:c.-126C>G
  • NM_006642.5:c.778C>GMANE SELECT
  • NP_001337177.1:p.Leu292Val
  • NP_001337178.1:p.Leu162Val
  • NP_006633.1:p.Leu260Val
  • NC_000001.10:g.243471328C>G
  • NM_006642.3:c.778C>G
Protein change:
dbSNP: rs201869920
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001350246.1:c.-126C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350247.1:c.-126C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350251.1:c.-126C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350248.1:c.874C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350249.1:c.484C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006642.5:c.778C>G - missense variant - [Sequence Ontology: SO:0001583]


Senior-Loken syndrome 7 (SLSN7)
MONDO: MONDO:0013326; MedGen: C3150877; Orphanet: 3156; OMIM: 613615
Bardet-Biedl syndrome 16 (BBS16)
MONDO: MONDO:0014444; MedGen: C3889474; Orphanet: 110; OMIM: 615993

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000833844Invitaecriteria provided, single submitter
Uncertain significance
(Sep 27, 2020)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV000833844.3

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


This sequence change replaces leucine with valine at codon 260 of the SDCCAG8 protein (p.Leu260Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs201869920, ExAC 0.08%). This variant has not been reported in the literature in individuals with SDCCAG8-related disease. ClinVar contains an entry for this variant (Variation ID: 436676). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center