ClinVar Miner

Submissions for variant NM_015426.5(POC1A):c.472C>T (p.Arg158Trp)

gnomAD frequency: 0.00001  dbSNP: rs370528660
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002014325 SCV002301956 uncertain significance not provided 2024-11-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 158 of the POC1A protein (p.Arg158Trp). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1511069). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt POC1A protein function with a positive predictive value of 80%. 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.
Ambry Genetics RCV004046699 SCV005008599 uncertain significance Inborn genetic diseases 2022-06-21 criteria provided, single submitter clinical testing The c.472C>T (p.R158W) alteration is located in exon 5 (coding exon 5) of the POC1A gene. This alteration results from a C to T substitution at nucleotide position 472, causing the arginine (R) at amino acid position 158 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
3billion, Medical Genetics RCV004720356 SCV005328836 likely benign Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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