ClinVar Miner

Submissions for variant NM_015295.3(SMCHD1):c.3047C>T (p.Pro1016Leu)

gnomAD frequency: 0.00006  dbSNP: rs528154864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323778 SCV000344027 uncertain significance not provided 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001216693 SCV001388503 uncertain significance Facioscapulohumeral muscular dystrophy 2 2024-03-13 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1016 of the SMCHD1 protein (p.Pro1016Leu). This variant is present in population databases (rs528154864, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SMCHD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 289638). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV004021285 SCV004954124 uncertain significance Inborn genetic diseases 2023-12-13 criteria provided, single submitter clinical testing The c.3047C>T (p.P1016L) alteration is located in exon 24 (coding exon 24) of the SMCHD1 gene. This alteration results from a C to T substitution at nucleotide position 3047, causing the proline (P) at amino acid position 1016 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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