Submissions for variant NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)

gnomAD frequency: 0.02130  dbSNP: rs73495790

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000036135	SCV000059787	benign	not specified	2010-12-20	criteria provided, single submitter	clinical testing	Pro1341Pro in exon 31 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed in dbSNP in 2/50 chromosomes plus 2 additional c ontrol submissions (rs73495790). In addition, this variant has previously been r eported as benign (Jaijo 2007) and has been observed in our laboratory in 10% of Black and/or Hispanic cases.
Illumina Laboratory Services, Illumina	RCV000365602	SCV000374359	likely benign	Autosomal recessive nonsyndromic hearing loss 2	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000269187	SCV000374360	likely benign	Usher syndrome type 1	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.
Illumina Laboratory Services, Illumina	RCV000307896	SCV000374361	likely benign	Autosomal dominant nonsyndromic hearing loss 11	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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000036135	SCV000730252	benign	not specified	2017-12-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000956981	SCV001103773	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000956981	SCV005211457	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001273496	SCV001456607	benign	Usher syndrome type 1B	2020-09-16	no assertion criteria provided	clinical testing