ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.3215C>T (p.Thr1072Ile)

gnomAD frequency: 0.00007  dbSNP: rs543040893
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001243521 SCV001416689 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 1072 of the MYO7A protein (p.Thr1072Ile). This variant is present in population databases (rs543040893, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 968397). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001835174 SCV002086658 uncertain significance Usher syndrome type 1B 2020-09-29 no assertion criteria provided clinical testing

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