Submissions for variant NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)

dbSNP: rs368974927

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001114976	SCV001272907	uncertain significance	Autosomal dominant nonsyndromic hearing loss 23	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001114977	SCV001272908	likely benign	Branchiootic syndrome 3	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV001563359	SCV001786287	likely benign	not provided	2020-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21280147)
Labcorp Genetics (formerly Invitae), Labcorp	RCV002556255	SCV003258862	likely benign	Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23	2023-04-30	criteria provided, single submitter	clinical testing
Laboratory of Prof. Karen Avraham, Tel Aviv University	RCV001114976	SCV005073793	pathogenic	Autosomal dominant nonsyndromic hearing loss 23	2024-06-05	criteria provided, single submitter	research	Pathogenic by Deafness Variation Database based on PMID:21280147
PreventionGenetics, part of Exact Sciences	RCV003953486	SCV004767341	likely benign	SIX1-related disorder	2024-02-21	no assertion criteria provided	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).