ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile) (rs544709413)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497657 SCV000590416 uncertain significance not provided 2017-06-13 criteria provided, single submitter clinical testing The T2170I variant in the MYO7A gene has been reported previously in an individual with Usher syndrome who participated in a national collaborative Usher study, however additional clinical or family history information was not provided (Le Quesne Stabej et al., 2012) . The T2170I variant is observed in 34/16512 (0.21%) alleles from individuals of South Asian background, in the ExAC dataset, and no homozygous individuals were reported (Lek et al., 2016). The T2170I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret T2170I as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV001112405 SCV001270062 uncertain significance Deafness, autosomal recessive 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.
Illumina Clinical Services Laboratory,Illumina RCV001112406 SCV001270063 uncertain significance Deafness, autosomal dominant 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 Clinical Services Laboratory,Illumina RCV001112407 SCV001270064 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.

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