ClinVar Miner

Submissions for variant NM_015426.5(POC1A):c.586C>T (p.His196Tyr)

gnomAD frequency: 0.00093  dbSNP: rs144052887
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334861 SCV001527831 uncertain significance Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2018-06-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001760434 SCV001990010 uncertain significance not provided 2022-01-25 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001760434 SCV002199084 uncertain significance not provided 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 196 of the POC1A protein (p.His196Tyr). This variant is present in population databases (rs144052887, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with POC1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1032692). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Fulgent Genetics, Fulgent Genetics RCV001334861 SCV005662617 uncertain significance Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2024-02-07 criteria provided, single submitter clinical testing

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