Submissions for variant NM_014425.5(INVS):c.2278T>G (p.Ser760Ala)

gnomAD frequency: 0.00032  dbSNP: rs146901872

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000728353	SCV000855911	uncertain significance	not provided	2018-02-01	criteria provided, single submitter	clinical testing
Invitae	RCV001079190	SCV001001021	likely benign	Nephronophthisis	2024-01-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001169407	SCV001332102	uncertain significance	Infantile nephronophthisis	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV000728353	SCV001501034	uncertain significance	not provided	2020-12-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002536407	SCV003567330	uncertain significance	Inborn genetic diseases	2022-12-06	criteria provided, single submitter	clinical testing	The c.2278T>G (p.S760A) alteration is located in exon 14 (coding exon 13) of the INVS gene. This alteration results from a T to G substitution at nucleotide position 2278, causing the serine (S) at amino acid position 760 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003928217	SCV004737823	likely benign	INVS-related condition	2021-04-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).