Submissions for variant NM_139343.3(BIN1):c.784A>C (p.Asn262His)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001896586	SCV002172004	uncertain significance	Myopathy, centronuclear, 2	2022-08-09	criteria provided, single submitter	clinical testing	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. ClinVar contains an entry for this variant (Variation ID: 1400065). This variant has not been reported in the literature in individuals affected with BIN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces asparagine, which is neutral and polar, with histidine, which is basic and polar, at codon 262 of the BIN1 protein (p.Asn262His).
Revvity Omics, Revvity	RCV001896586	SCV003829863	uncertain significance	Myopathy, centronuclear, 2	2019-08-02	criteria provided, single submitter	clinical testing

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