Submissions for variant NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)

gnomAD frequency: 0.00034  dbSNP: rs201251963

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724089	SCV000229762	uncertain significance	not provided	2016-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000724089	SCV000582556	uncertain significance	not provided	2021-01-19	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000177824	SCV000711161	likely benign	not specified	2017-06-26	criteria provided, single submitter	clinical testing	p.Asn1586Ser variant in exon 35 of MYO7A: This variant is not expected to have c linical significance because it has been identified in 0.5% of East Asian chrom osomes including 1 homozygote by the genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs201251963).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000724089	SCV001048924	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004649085	SCV005142627	uncertain significance	Inborn genetic diseases	2024-03-30	criteria provided, single submitter	clinical testing	The c.4757A>G (p.N1586S) alteration is located in exon 35 (coding exon 34) of the MYO7A gene. This alteration results from a A to G substitution at nucleotide position 4757, causing the asparagine (N) at amino acid position 1586 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc.	RCV001272798	SCV001455164	benign	Usher syndrome type 1B	2020-05-20	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004539661	SCV004758715	likely benign	MYO7A-related disorder	2022-03-18	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).