ClinVar Miner

Submissions for variant NM_018646.6(TRPV6):c.1744G>A (p.Asp582Asn)

dbSNP: rs745903672
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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 RCV005094322 SCV005810077 uncertain significance not provided 2024-11-05 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 582 of the TRPV6 protein (p.Asp582Asn). This variant is present in population databases (rs745903672, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TRPV6-related conditions. ClinVar contains an entry for this variant (Variation ID: 992367). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280805 SCV001468140 uncertain significance Hyperparathyroidism, transient neonatal 2020-06-16 no assertion criteria provided clinical testing

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