ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)

dbSNP: rs782176754
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001041686 SCV001205313 likely benign not provided 2024-11-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001110699 SCV001268168 uncertain significance 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 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 RCV001110700 SCV001268169 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001110701 SCV001268170 uncertain significance 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 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.
GeneDx RCV001041686 SCV001823934 uncertain significance not provided 2023-06-06 criteria provided, single submitter clinical testing Identified in a large cohort of individuals with Usher syndrome; however, patient-specific clinical and segregation information not provided (Le Quesne Stabej et al., 2012); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22135276)
Natera, Inc. RCV001832403 SCV002086604 uncertain significance Usher syndrome type 1B 2020-02-11 no assertion criteria provided clinical testing

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